scholarly journals HLA Haplotype Association with Celiac Disease in Albanian Pediatric Patients from Kosovo

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Atifete Ramosaj-Morina ◽  
Marija Burek Kamenaric ◽  
Mehmedali Azemi ◽  
Lidvana Spahiu ◽  
Zorana Grubic ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Statistical Significance ◽  
Population Data ◽  
Control Group ◽  
Hla Dq ◽  
The Individual ◽  
Hla Haplotypes ◽  
The Given ◽  
Hla Dq2

Genetic predisposition to celiac disease (CD) is strongly associated with the presence of HLA alleles in the individual genotype encoding HLA-DQ2 and/or HLA-DQ8 heterodimers. The main aim of this study was to analyze the HLA-A, -B, -DRB1, and -DQ allele and five-locus haplotype frequencies in 60 Albanian pediatric CD patients and 124 non-CD children from Kosovo. The most prevalent haplotype in patients was the ancestral AH 8.1 haplotype present in 22.5% of the cases compared to 2.8% of the controls (P<0.0001). Additionally, two other haplotypes were also overrepresented in patients (HLA-A∗02~B∗50~DRB1∗07~DQA1∗02:01~DQB1∗02:02 and HLA-A∗68~B∗44~DRB1∗07~DQA1∗02:01~DQB1∗02:02). Analysis showed that 95.0% of CD patients and 43.3% of controls were carriers of HLA-DQ2 and/or HLA-DQ8 heterodimers. The most frequent CD-predisposing HLA-DQ haplotypes in patients were HLA-DQ2.5 (46.7%) and HLA-DQ2.2 (11.6%), while the most prevalent genotypes were HLA-DQ2.5/DQX (58.3%) and HLA-DQ2.5/DQ2.2 (20.0%). The frequency of the HLA-DQ8 heterodimer among CD patients (4.2%) compared to the control group (8.1%) was without statistical significance. The given data demonstrate differences in the distribution of HLA haplotypes among Albanian CD patients from Kosovo in comparison to other European and non-European populations, as well as provide additional population data to supplement the thus far undisputed importance of the role of HLA-DQ2 and HLA-DQ8 heterodimers in the development of CD.

Prevalence of HLA DQ 2, 8 in children with celiac disease

2021 ◽  
pp. 1-6
Author(s):  
Seyed Mohsen Dehghani ◽  
Naqi Dara ◽  
Behrooz Gharesifar ◽  
Iraj Shahramian ◽  
Fatemeh Dalili ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Normal Population ◽  
Failure To Thrive ◽  
Hla Typing ◽  
Control Group ◽  
P Value ◽  
Normal Children ◽  
Hla Dq ◽  
Inducing Factors ◽  
Hla Dq2

OBJECTIVE: Celiac disease is a chronic disease that affect small bowel by making its villi become atrophic. Various environmental and genetic factors have been identify as inducing factors for celiac disease. Most of the patients has one of the HLA DQ forms. Although the prevalence of these genes are variable in different areas of the world, we do not have a comprehensive information about this issue in our region. Thus the aim of present study is to investigate the prevalence of HLA DQ typing of patients who visited Emam Reza Gastroenterology clinic of Shiraz(IRAN). METHODS: In this case-control study all under 18 years old children who were diagnosed with celiac disease and have visited Emam Reza gastroenterology clinic were investigated. The diagnosis of celiac disease was made by history, physical exam, serologic test, and histopathology of duodenal biopsy. Blood sample was taken and HLA typing performed using PCR method at Motahari clinic cytology laboratory. Also those people who neither them self nor their first degree relatives were not case of celiac disease and underwent HLA typing for other reason were identified as control group. The statistical analysis was done using SPSS 18 software. The p value < 0.05 was identified as statistically significant. RESULTS: A total of 139 patients with celiac disease and 146 normal children were studied. The mean age of the patient with celiac disease were 9.1 years old with standard deviation of 3.4 years old. 64% of the celiac patients were girls and 36% were boys. While this proportion was 54.4% for boy and 48.6% for girls in control group. The most common HLA in celiac patients group were HLA DQ2 and 8 but the most common ones in control group were HLA DQ 8 and 5. Failure to Thrive were the most common signs of the celiac patients with a prevalence of 60 children. Total IgA titer were normal in 98.6% of the patients and TTG IgA titer were positive in 93.5% of the patients. The most common co existing disease with the celiac disease were diabetes with a prevalence of 30 children (66.7%). CONCLUSION: present study reveals that the prevalence of the HLA DQ2 and 8 among patients with celiac disease is 72.6% and 53% in our normal population.

Genetic markers of celiac disease: modern concern

2014 ◽  
Vol 5 (2) ◽  
pp. 19-24 ◽  
Author(s):  
Irina Nikolayevna Zakharova ◽  
Tatyana Eduardovna Borovik ◽  
Yelena Aleksandrovna Roslavtseva ◽  
Yelena Nikolayevna Kasatkina ◽  
Yuliya Andreyevna Dmitriyeva
Keyword(s):  
Celiac Disease ◽  
Genetic Risk ◽  
Genetic Disorder ◽  
Individual Risk ◽  
Histocompatibility Complex ◽  
Hla Dq ◽  
The Individual ◽  
Hla Molecules ◽  
Hla Dq2

According to the results of recent scientific studies there is a strong evidence to characterize celiac disease as genetic disorder associated with antigens of major histocompatibility complex (MCH II) HLA-DQ2 and HLA-DQ8. Different loci of HLA molecules are encoded by specific alleles and their combination determines the individual risk of celiac disease formation. In this article authors discuss data on structure of DQ2 and DQ8 molecules, the frequency of different alleles detection in celiac patients and possible classification of genetic risk of celiac disease formation according to HLA-DQ genotype.

scholarly journals TheCCR5Δ32Polymorphism in Brazilian Patients with Sickle Cell Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Mariana Pezzute Lopes ◽  
Magnun Nueldo Nunes Santos ◽  
Eliel Wagner Faber ◽  
Marcos André Cavalcanti Bezerra ◽  
Betânia Lucena Domingues Hatzlhofer ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Statistical Significance ◽  
Population Sample ◽  
Selective Advantage ◽  
Northeastern Brazil ◽  
Control Group ◽  
Cell Disease ◽  
Specific Pcr

Background. Previous studies on the role of inflammation in the pathophysiology of sickle cell disease (SCD) suggested that theCCR5Δ32allele, which is responsible for the production of truncated C-C chemokine receptor type 5 (CCR5), could confer a selective advantage on patients with SCD because it leads to a less efficient Th1 response. We determined the frequency of theCCR5Δ32polymorphism in 795 Afro-Brazilian SCD patients followed up at the Pernambuco Hematology and Hemotherapy Center, in Northeastern Brazil, divided into a pediatric group (3 months–17 years,n=483) and an adult group (18–70 years,n=312). The adult patients were also compared to a healthy control group (blood donors, 18–61 years,n=247).Methods. TheCCR5/CCR5Δ32polymorphism was determined by allele-specific PCR.Results. No homozygous patient for theCCR5Δ32allele was detected. The frequency of heterozygotes in the study population (patients and controls) was 5.8%, in the total SCD patients 5.1%, in the children 5.4%, in the adults with SCD 4.8%, and in the adult controls 8.1%. These differences did not reach statistical significance.Conclusions. Our findings failed to demonstrate an important role of theCCR5Δ32allele in the population sample studied here.

scholarly journals The importance of genetic factors in the development of celiac disease in children of the Uzbek population

2020 ◽  
pp. 22-27
Author(s):  
Z.M. Abdujabarova ◽  
◽  
A.T. Kamilova ◽  
Keyword(s):  
Celiac Disease ◽  
Relative Risk ◽  
Medical Center ◽  
Class Ii ◽  
Control Group ◽  
Population Genetic Study ◽  
Hla Dq ◽  
Sick Children ◽  
Hla Dqa1 ◽  
Relationship Of

The results of genetic studies have proven the relationship of celiac disease with class II genes of the major histocompatibility complex (HLA), in particular with the DQ locus. The presence of specific alleles at the HLA-DQ locus is necessary, but insufficient, for the realization of the disease phenotype. In Uzbekistan, the distribution of HLA markers in children with celiac disease has not been studied and these studies are required. Purpose — to establish the peculiarities of the distribution of HLA II class celiac disease alleles in children in the Uzbek population. Materials and methods. We examined 54 children with celiac disease of the Uzbek population, who were registered and receiving inpatient treatment at the Republican Specialized Scientific and Practical Medical Center of Pediatrics. The age of the examined children was from 1 to 14 years old, the average age was 7.3±1.9 years. The control group consisted of 109 unrelated Uzbeks without immune diseases. Molecular typing of HLA II class genes was determined by DNA chain reaction polymerase. Results. As a result of gene typing, 48 (88.8%) out of 54 investigated had DQ2 and DQ8 haplotypes associated with celiac disease. Haplotypes with only DQ2 and DQ8 were found in 19 (39.5%) and 7 (14.5%), respectively. DQ2 from 48 children was found in 18 (37.5%) children in the trans-position, in 2 (4,1%) — as two copies of DQ2 dimers, and in 1 (2%) case in combination with DQ8. Only in one case (2%) was DQ8 found as two copies of DQ8 dimers. The frequency of occurrence of the HLA-DRB1*07 and *13 alleles was significantly higher than in the control group. The maximum value of the relative risk and the criterion of reliability are noted in the DQA1*0501 allele, i.e. it is positively associated with celiac disease (χ2=7.28, RR=2.03). Significance criterion and relative risk were observed in sick children with DQB1*0201 (χ2=6.74, RR=1.97) associated with celiac disease. The number of haplotype (DQA1*0501-DQB1*0201) was 36 (75%). Conclusions. A specific predisposition to celiac disease in children of the Uzbek population is associated with the genes HLA-DQA1*0501, HLA-DQB1*0201, HLA-DRB1*07 and *13. Alleles such as DRB1*15, DQA1*0102, DQB1*0303 and *0502, have a protective effect in the development of celiac disease in children of the Uzbek population. A high frequency of carriage of the DRB1*13 — HLA-DQА1*0501 and DQB1*0201 (DQ2 type) haplotype in Uzbeks (75%) was found, which requires a more thorough population genetic study of the Uzbek population for the HLA II class DRB1-DQA1-DQB1 genes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: celiac disease, children, genetics, HLA class II.

scholarly journals The Role of HLA in the Association between IgA Deficiency and Celiac Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Dimitri Poddighe ◽  
Cristina Capittini
Keyword(s):  
Celiac Disease ◽  
Iga Deficiency ◽  
Allelic Variants ◽  
Selective Iga Deficiency ◽  
Immune Defect ◽  
Diagnostic Work ◽  
Hla Haplotypes ◽  
Work Up ◽  
Immunological Alterations

Selective IgA deficiency (SIgAD) is the most frequent primary immune defect. Since SIgAD is not characterized by relevant infectious issues in most cases, it is often diagnosed during the diagnostic work up of several and different autoimmune disorders, which are associated with this primary immune defect. The genetic background of SIgAD is complex and three HLA haplotypes resulted to be more frequently associated with it; in detail, two of them include HLA-DQB 1 ∗ 02 allelic variants, which are essential predisposing factors to develop Celiac Disease (CD). Here, we discuss the evidence regarding the role of HLA in the etiopathogenesis of SIgAD and its association with CD. Actually, the HLA region seems to play a modest role in the genetic predisposition to SIgAD and we may speculate that the association with the HLA-DQB 1 ∗ 02 alleles (or haplotypes including them) could derive from its link with CD. Indeed, SIgAD and some related immunological alterations are likely to predispose to several autoimmune diseases (with and despite different HLA backgrounds), including CD, which is relatively common and directly associated with the HLA-DQB 1 ∗ 02 allelic variants coding the DQ2 heterodimer. Further and specific studies are needed to make final conclusions in this regard.

scholarly journals The Role of Differentiation of Self Dimensions in the Anxiety Problems

2019 ◽  
Vol 28 (1) ◽  
pp. 90-97
Author(s):  
Jessica Lampis ◽  
Stefania Cataudella ◽  
Roberta Speziale ◽  
Samara Elat
Keyword(s):  
Psychological Health ◽  
Differentiation Of Self ◽  
Individual Development ◽  
Control Group ◽  
Anxiety Group ◽  
Multigenerational Family ◽  
Therapeutic Services ◽  
The Individual ◽  
Emotional Cutoff

Bowen’s multigenerational family theory emphasizes the importance of autonomy and interdependence in individual development and focuses on the role played by the differentiation of self processes on the psychological health at the individual, dyadic, and systemic levels. Starting from these premises, the main objective of our investigation was to explore the differences, in the levels of anxiety and differentiation of self, between a control group ( n = 69) and a sample of adults seeking therapeutic services for anxiety ( n = 47). To better specify our results, in a second step, we also explored which of the differentiation of self dimensions could increase or reduce the likelihood that an individual belonged to the anxiety group or to the control group. We found that lower levels of I-position, and higher levels of emotional cutoff and fusion with others, display higher levels of anxiety-related problems. Moreover, emotional cutoff and fusion with other traits emerged as a predictor of the probability of seeking support for anxiety disorders.

Role of MicroRNAs (224 and 96) as Novel Biomarkers for Hepatocellular Carcinoma

2020 ◽  
Vol 16 ◽  
Author(s):  
Amal A. Mohamed ◽  
Mokhtar M. El-Zawahry ◽  
Omnia I. Tantawi ◽  
Amyan Aalkhalegy ◽  
Lamiaa Abdelfattah Fathalla ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Statistical Significance ◽  
Control Group ◽  
P Value ◽  
Significance Level ◽  
Real Time Quantitative Pcr ◽  
Novel Biomarkers ◽  
Laboratory Investigations ◽  
And Control

Background:: In the early stages of HCC, it is unsatisfactory to depend on alpha-fetoprotein for diagnosis. Objective:: The current study evaluated the possibility of the two miRNAs which are miRNA-96 and miRNA-224 to act as biomarkers for HCC diagnosis. Methods:: This study included 50 patients with HCV-induced HCC and 50 patients with HCV-induced liver cirrhosis for comparison as well as 67 healthy volunteers as controls. All participants were subjected to history taking, clinical examination, and laboratory investigations as well as quantification of serum miRNA-96 and miRNA-224 by real-time quantitative PCR. Results:: MicroRNA 224 level was significantly higher in HCC than the other two groups and was significantly higher in liver cirrhosis than the control group. MicroRNA 96 level was higher in HCC than the control group and was higher in cirrhotic group than both HCC and control groups. However, it doesn’t reach the statistical significance level. The best cut-off value of microRNA 96 for detecting HCC was 3.414 with a sensitivity of 67% and a specificity of 67%, (p-value <0.001). The best cut-off value of microRNA 224 for detecting HCC was 16.75 with a sensitivity of 88% and a specificity of 85% (p-value<0.001). Conclusion:: miRNA-224 could serve as a biomarker for the HCC diagnosis.

scholarly journals The Change of GFAP or S100B Concentration in Serum Before and After Carotid Artery Stenting

2020 ◽  
Author(s):  
Xiaofan Yuan ◽  
Shu Yang ◽  
Lei Guo ◽  
Duozi Wang ◽  
Jie Huang ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Stent Implantation ◽  
Carotid Artery Stenting ◽  
Statistical Significance ◽  
Control Group ◽  
Blood Samples ◽  
Before And After ◽  
Operative Evaluation ◽  
Symptomatic Stenosis

Abstract Background：This study explored the role of GFAP and S100B as cerebral biomarkers in the pre-operative evaluation and post-operative efficacy in monitoring of carotid stent implantation. Method：32 with unilateral carotid stenosis who underwent carotid artery stenting (CAS) enrolled in the CAS group. The blood samples of operation patients were collected on three different time points: T1: the day before operation; T2: 24 hours after operation; T3, 72 hours after operation. 32 who were excluded for carotid artery stenosis by Digital Subtraction Angiography (DSA) were selected as the control group. The blood samples of patients in control group were collected at D1 (before DSA) and D2 (24 hours after DSA). Results：(1). The serum concentrations of GFAP and S100B was higher in the CAS group before operation than those in DSA group（P<0.05）. (2). In the operation group, GFAP and S100B increased significantly on the first day after operation (T2) and decreased gradually on the third day after operation (T3) but increased compared with that before operation (T1) with statistical significance (P < 0.05). (3). For patients with symptomatic stenosis before operation, the concentrations of GFAP and S100B in serum were higher than those in patients without symptomatic stenosis (P < 0.05). Conclusions： The cerebral biochemical markers GFAP and S100B have a certain change trend after CAS, which can be used as a method to evaluate and monitor the curative effect before and after carotid artery stent implantation combined with imaging tools.

scholarly journals PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease

Nutrients ◽  
2018 ◽  
Vol 10 (9) ◽  
pp. 1239 ◽  
Author(s):  
Raffaella Tortora ◽  
Antonio Rispo ◽  
Anna Alisi ◽  
Nicola Imperatore ◽  
Annalisa Crudele ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Celiac Disease ◽  
Hepatic Steatosis ◽  
Odds Ratio ◽  
Binary Logistic Regression ◽  
Control Group ◽  
Gluten Free ◽  
Key Factor ◽  
Severe Grade

Metabolic syndrome (MS) and hepatic steatosis (HS) have been described in patients with celiac disease (CD) after starting a gluten-free diet (GFD), but data on predictive factors for these conditions are scarce. Recently, the patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs738409 has been identified as a key factor for HS development in the general population. The aim of the study was to evaluate the role of PNPLA3 rs738409 in the development of MS and HS in CD patients after starting GFD. Between June 2014 and September 2016, we consecutively enrolled CD patients with HS, while those without steatosis served as a control group. All patients underwent anthropometric and serologic investigations, ultrasonography (US) to assess the degree and severity of HS, and genotyping of the PNPLA3 rs738409 polymorphism. Finally, 370 subjects were enrolled (136 with and 234 without HS). At genotyping assays, the CC genotype was found in 194 subjects (52.4%), the CG genotype in 138 subjects (37.3%), and the GG genotype in 38 subjects (10.2%). At binary logistic regression, only CG and GG alleles were predictive for the development of HS (odds ratio (OR) 1.97; p < 0.01 for CG and OR 6.9; p < 0.001 for GG). Body mass index (BMI) (OR 3.8; p < 0.001) and waist circumference (OR 2.8; p = 0.03) at CD diagnosis were the only independent factors for the development of MS. Intergroup comparisons showed that the severe grade of HS was more frequently observed in GG than in CC carriers (74% vs. 11.3%, p < 0.001, OR 21.8). PNPLA3 CG and GG carriers with CD have a higher susceptibility to hepatic steatosis, but not to metabolic syndrome. Moreover, patients with GG alleles display more severe forms of HS based on ultrasound.

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